Linked Data
dbSNP Id:
rs532485717
ExAC:
12:52310007 C / A
gnomAD v2:
12-52310007-C-A
gnomAD v3:
12-51916223-C-A
gnomAD v4:
12-51916223-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916223C>A , CM000674.2:g.51916223C>A | GRCh38 |
| NC_000012.11:g.52310007C>A , CM000674.1:g.52310007C>A | GRCh37 |
| NC_000012.10:g.50596274C>A | NCBI36 |
| NG_009549.1:g.13806C>A , LRG_543:g.13806C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.966C>A | ENSP00000446724.2:p.Thr322= | |
| ENST00000551576.6:c.1236C>A | ENSP00000455848.2:p.Thr412= | |
| ENST00000552678.2:c.1236C>A | ENSP00000457394.2:p.Thr412= | |
| ENST00000388922.9:c.1236C>A MANE Select | ENSP00000373574.4:p.Thr412= | |
| ENST00000388922.8:c.1236C>A | ENSP00000373574.4:p.Thr412= | |
| ENST00000419526.6:c.714C>A | ENSP00000392492.2:p.Thr238= | |
| ENST00000547632.1:n.511C>A | ||
| ENST00000550683.5:c.1278C>A | ENSP00000447884.1:p.Thr426= | |
| ENST00000552678.1:c.241C>A | ||
| NM_000020.2:c.1236C>A , LRG_543t1:c.1236C>A | NP_000011.2:p.Thr412= | |
| NM_001077401.1:c.1236C>A | NP_001070869.1:p.Thr412= | |
| XM_005269235.2:c.1236C>A | XP_005269292.1:p.Thr412= | |
| XM_011539008.1:c.966C>A | XP_011537310.1:p.Thr322= | |
| XM_024449279.1:c.447C>A | XP_024305047.1:p.Thr149= | |
| NM_000020.3:c.1236C>A MANE Select | NP_000011.2:p.Thr412= | |
| NM_001077401.2:c.1236C>A | NP_001070869.1:p.Thr412= |